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Related Concept Videos

Lethal Alleles02:41

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Epistasis01:39

Epistasis

In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
Background and Environment Affect Phenotype02:27

Background and Environment Affect Phenotype

Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
Genetic Variation01:25

Genetic Variation

Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles, which...

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Updated: Jun 21, 2026

Functional Characterization of Endogenously Expressed Human RYR1 Variants
07:59

Functional Characterization of Endogenously Expressed Human RYR1 Variants

Published on: June 9, 2021

Genetic variation in RYR1 and malignant hyperthermia phenotypes.

D Carpenter1, R L Robinson, R J Quinnell

  • 1MH Investigation Unit, Academic Unit Anaesthesia, St James's University Hospital, Leeds LS9 7TF, UK.

British Journal of Anaesthesia
|August 4, 2009
PubMed
Summary

Different RYR1 gene variants significantly alter malignant hyperthermia (MH) severity. This finding helps explain MH variability and guides genetic testing strategies for related conditions.

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Area of Science:

  • Genetics
  • Pharmacology
  • Medical Science

Background:

  • Malignant hyperthermia (MH) is primarily linked to RYR1 gene mutations.
  • The RYR1 gene encodes the skeletal muscle ryanodine receptor, crucial for muscle function.
  • Understanding RYR1 variants is key to diagnosing and managing MH.

Purpose of the Study:

  • To investigate the association between specific RYR1 variants and quantitative differences in the MH phenotype.
  • To conduct the most extensive RYR1 genotype-phenotype correlation in MH to date.
  • To correlate clinical MH presentation with laboratory findings and RYR1 genotype.

Main Methods:

  • Quantitative phenotypes were generated using in vitro muscle contracture response and baseline serum creatine kinase (CK) levels.
  • A large cohort of 504 individuals from 204 MH families with 23 RYR1 variants was analyzed.
  • Associations between clinical, laboratory, and genotypic data were statistically determined.

Main Results:

  • A novel correlation was found between in vitro muscle contracture response and clinical MH onset time (P<0.05).
  • Baseline CK concentration significantly correlated with clinical onset time (P=0.039).
  • Specific RYR1 variants were significant determinants of MH laboratory phenotype severity (P<0.0001).

Conclusions:

  • The MH phenotype severity is significantly influenced by different RYR1 variants.
  • RYR1 variants associated with severe MH are located throughout the gene at conserved protein sites.
  • These genotype-phenotype differences explain MH clinical variability and potential links to rhabdomyolysis and heat stroke.